Varaico: Literature-Extracted Genetic Variants

Gene:BIN1
Variant:p.D151N
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BIN1

NM_139343.3:p.D151N

Associated Papers

Accurate affinity models for SH2 domains from peptide binding assays and free-energy regression.

Gagoski D et al.

Protein Science : a Publication of the Protein Society, 2025

41088778 (PubMed )
Supplement: PRO-34-e70317-s008.xlsx › _S6_-_PTMVar_-_Fyn

Accurate sequence-to-affinity models for SH2 domains from multi-round peptide binding assays coupled with free-energy regression.

Gagoski D et al.

Biorxiv : the Preprint Server for Biology, 2025

39764007 (PubMed )
Supplement: media-1.xlsx › _S6_-_PTMVar_-_Fyn

BIN1 regulates actin-membrane interactions during IRSp53-dependent filopodia formation.

Picas L et al.

Communications Biology, 2024

Coding variants identified in patients with diabetes alter PICK1 BAR domain function in insulin granule biogenesis.

Andersen RC et al.

The Journal of Clinical Investigation, 2022

Amphiphysin 2 Orchestrates Nucleus Positioning and Shape by Linking the Nuclear Envelope to the Actin and Microtubule Cytoskeleton.

D'Alessandro M et al.

Developmental Cell, 2015

Adult-onset autosomal dominant centronuclear myopathy due to BIN1 mutations.

Böhm J et al.

Brain : a Journal of Neurology, 2014

N-WASP is required for Amphiphysin-2/BIN1-dependent nuclear positioning and triad organization in skeletal muscle and is involved in the pathophysiology of centronuclear myopathy.

Falcone S et al.

Embo Molecular Medicine, 2014

Amphiphysin 2 (BIN1) in physiology and diseases.

Prokic I et al.

Journal of Molecular Medicine (berlin, Germany), 2014

Mutations in BIN1 associated with centronuclear myopathy disrupt membrane remodeling by affecting protein density and oligomerization.

Wu T et al.

Plos One, 2014

The myotubularin-amphiphysin 2 complex in membrane tubulation and centronuclear myopathies.

Royer B et al.

Embo Reports, 2013

Altered splicing of the BIN1 muscle-specific exon in humans and dogs with highly progressive centronuclear myopathy.

Böhm J et al.

Plos Genetics, 2013

Clinical utility gene card for: Centronuclear and myotubular myopathies.

Biancalana V et al.

European Journal of Human Genetics : Ejhg, 2012

Defects in amphiphysin 2 (BIN1) and triads in several forms of centronuclear myopathies.

Toussaint A et al.

Acta Neuropathologica, 2011

Case report of intrafamilial variability in autosomal recessive centronuclear myopathy associated to a novel BIN1 stop mutation.

Böhm J et al.

Orphanet Journal of Rare Diseases, 2010

Mutations in amphiphysin 2 (BIN1) disrupt interaction with dynamin 2 and cause autosomal recessive centronuclear myopathy.

Nicot AS et al.

Nature Genetics, 2007

Mutant BIN1-Dynamin 2 complexes dysregulate membrane remodeling in the pathogenesis of centronuclear myopathy.

Fujise K et al.

The Journal of Biological Chemistry, 0

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."